S. Rossignol

发表

11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations.

G. Pinto, C. Gicquel, Y. Le Bouc, 2007, The Journal of clinical endocrinology and metabolism.

Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders.

Albert David, Christine Gicquel, Jun Okabe, 2010, Human molecular genetics.

Increasing knowledge in IGF1R defects: lessons from 35 new patients

Y. Le Bouc, M. Cuvelier, B. Isidor, 2019, Journal of Medical Genetics.

Prevalence and management of gastrointestinal manifestations in Silver–Russell syndrome

P. Tounian, I. Netchine, S. Rossignol, 2014, Archives of Disease in Childhood.

Mutation update for the GPC3 gene involved in Simpson‐Golabi‐Behmel syndrome and review of the literature

A. Toutain, E. Colin, S. Nampoothiri, 2018, Human mutation.

Phenotypic Spectrum of Simpson–Golabi–Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3 and Review of the Literature

A. Toutain, N. Philip, A. Verloes, 2013, American journal of medical genetics. Part C, Seminars in medical genetics.

Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome

A. Afenjar, N. Philip, J. Thevenon, 2018, The Journal of clinical endocrinology and metabolism.

Malformations, genetic abnormalities, and wilms tumor

H. Brisse, D. Stoppa-Lyonnet, C. Baumann, 2014, Pediatric blood & cancer.

Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome.

A. Munnich, S. Lyonnet, C. Gicquel, 2004, American journal of human genetics.

Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome

C. Gicquel, V. Barbu, S. Cabrol, 2005, Nature Genetics.

Myoclonus-dystonia due to maternal uniparental disomy.

M. Vidailhet, C. Klein, E. Apartis, 2008, Archives of neurology.

Exhaustive methylation analysis revealed uneven profiles of methylation at IGF2/ICR1/H19 11p15 loci in Russell Silver syndrome

Y. Le Bouc, J. Tost, F. Busato, 2014, Journal of Medical Genetics.

Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome.

L. Pasquier, S. Lyonnet, C. Gicquel, 2014, Human molecular genetics.

Complex Tissue‐Specific Epigenotypes in Russell–Silver Syndrome Associated with 11p15 ICR1 Hypomethylation

I. Netchine, S. Rossignol, S. Azzi, 2014, Human mutation.

CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome

A. Faussat, I. Netchine, S. Rossignol, 2013, Journal of Medical Genetics.

Russell Silver syndrome PCNA-binding domain as a cause of familial mutation affecting the CDKN 1 C

A. Faussat, I. Netchine, S. Rossignol, 2013 .

Epigenetic anomalies in childhood growth disorders.

Y. Le Bouc, I. Netchine, S. Rossignol, 2013, Nestle Nutrition Institute workshop series.

Possible association between complex congenital heart defects and 11p15 hypomethylation in three patients with severe Silver–Russell syndrome

M. Irving, B. Delobel, C. Vincent‐Delorme, 2013, American journal of medical genetics. Part A.

Imprinted anomalies in fetal and childhood growth disorders: the model of Russell-Silver and Beckwith-Wiedemann syndromes.

Y. Le Bouc, I. Netchine, S. Rossignol, 2012, Endocrine development.

Epigenetics, genomic imprinting and assisted reproductive technology.

C. Gicquel, Y. Le Bouc, I. Netchine, 2010, Annales d'endocrinologie.

Lessons from imprinted multilocus loss of methylation in human syndromes: A step toward understanding the mechanisms underlying these complex diseases

Y. Le Bouc, I. Netchine, S. Rossignol, 2010, Epigenetics.

Normal Growth despite Combined Pituitary Hormone Deficiency

Y. Le Bouc, P. Leneuve, L. Périn, 2019, Hormone Research in Paediatrics.

SNP arrays in Beckwith-Wiedemann syndrome: an improved diagnostic strategy.

C. Depienne, A. Brice, Y. Le Bouc, 2013, European journal of medical genetics.

Beckwith-Wiedemann Syndrome: Growth Pattern and Tumor Risk according to Molecular Mechanism, and Guidelines for Tumor Surveillance

M. Vazquez, C. Gicquel, Y. Le Bouc, 2013, Hormone Research in Paediatrics.

Acute lymphocytic leukaemia in a child with Beckwith-Wiedemann syndrome harbouring a CDKN1C mutation.

I. Coupier, C. Abadie, I. Netchine, 2010, European journal of medical genetics.

Clinical and molecular overlap in overgrowth syndromes

A. Munnich, S. Lyonnet, C. Gicquel, 2005, American journal of medical genetics. Part C, Seminars in medical genetics.

Molecular Mechanisms and Clinical Pathophysiologies of Focal ATP-Sensitive Potassium Channel Hyperinsulinism and Beckwith-Wiedemann Syndrome

Y. Aigrain, P. Lonlay, S. Rossignol, 2012 .

The epigenetic imprinting defect of patients with Beckwith—Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region

C. Gicquel, M. Rigolet, Y. Le Bouc, 2006, Journal of Medical Genetics.

Beckwith–Wiedemann syndrome and long QT syndrome due to familial‐balanced translocation t(11;17)(p15.5;q21.3) involving the KCNQ1 gene

A. Verloes, C. Baumann, I. Denjoy, 2013, Clinical genetics.

Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome

Mackay, Z. Tümer, P. Lapunzina, 2018 .

Wilms’ tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas

O. Delattre, N. Sevenet, C. Jeanpierre, 2012, European Journal of Human Genetics.

Perlman syndrome: Report, prenatal findings and review

S. Rossignol, J. Alessandri, D. Ramful, 2008, American journal of medical genetics. Part A.

Genome-Wide Paternal Uniparental Disomy as a Cause of Beckwith-Wiedemann Syndrome Associated with Recurrent Virilizing Adrenocortical Tumors

E. Letouzé, E. Lalli, C. Previderè, 2014, Hormone and Metabolic Research.

Reproduction Function in Male Patients With Bardet Biedl Syndrome

M. Mark, H. Dollfus, N. Messaddeq, 2020, The Journal of clinical endocrinology and metabolism.

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement

R. Hennekam, Z. Tümer, M. Kilby, 2018, Nature Reviews Endocrinology.

Epigenetics in Silver-Russell syndrome.

C. Gicquel, Y. Le Bouc, I. Netchine, 2008, Best practice & research. Clinical endocrinology & metabolism.

Human Fetal Growth Disorders and Imprinting Anomalies

C. Gicquel, I. Netchine, S. Rossignol, 2014 .

Genetic variants within the second intron of the KCNQ1 gene affect CTCF binding and confer a risk of Beckwith–Wiedemann syndrome upon maternal transmission

Abdul Waheed Khan, P. Déhais, A. El-Osta, 2014, Journal of Medical Genetics.

New insights into the pathogenesis of beckwith–wiedemann and silver–russell syndromes: Contribution of small copy number variations to 11p15 imprinting defects

L. Faivre, A. El-Osta, C. Gicquel, 2011, Human mutation.

Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations

M. Till, G. Lesca, N. Boutry‐Kryza, 2013, Journal of Medical Genetics.

Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci.

C. Gicquel, Y. Le Bouc, S. Cabrol, 2009, Human molecular genetics.

Allele‐specific methylated multiplex real‐time quantitative PCR (ASMM RTQ‐PCR), a powerful method for diagnosing loss of imprinting of the 11p15 region in Russell Silver and Beckwith Wiedemann syndromes

C. Gicquel, Y. Le Bouc, I. Netchine, 2011, Human mutation.

Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith–Wiedemann Syndrome: Clinical Spectrum and Functional Characterization

M. Polak, A. Verloes, D. Lacombe, 2015, Human mutation.

Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences

Y. Le Bouc, S. Chantot-Bastaraud, J. Siffroi, 2017, Journal of Medical Genetics.

[Placental mesenchymal dysplasia].

A. Vasiljevic, S. Rossignol, C. Huissoud, 2008, Annales de pathologie.

Silver-Russell syndrome and its genetic origins.

S. Rossignol, 2006, Journal of endocrinological investigation.

OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment

A. Munnich, N. Boddaert, R. Touraine, 2013, Clinical genetics.

Transcriptional profiling at the DLK1/MEG3 domain explains clinical overlap between imprinting disorders

Y. Le Bouc, I. Netchine, S. Rossignol, 2019, Science Advances.

Clinical and molecular overlap in overgrowth syndromes

A. Munnich, S. Lyonnet, C. Gicquel, 2022 .

Presenting features and molecular genetics of primary hyperparathyroidism in the paediatric population.

K. Busiah, J. Salles, J. Bacchetta, 2020, European journal of endocrinology.

Contents Vol. 80, 2013

P. Czernichow, G. Rappold, H. Wallaschofski, 2014, Hormone Research in Paediatrics.

[Fosfomycin in severe infection in neonatology].

S. Rossignol, C. Régnier, 1984, Annales de pediatrie.

Young XLH Patients-Reported Experience with a Supportive Care Program

J. Bacchetta, C. Audrain, S. Rossignol, 2023, Patient preference and adherence.

Mutation update for the GPC3 gene involved in Simpson–Golabi–Behmel syndrome and review of the literature